ESPE Abstracts

Objective: To describe six cases of possible partial ectopic posterior pituitary gland (PEPP) seen on head magnetic resonance imaging (MRI) and their associated clinical and endocrinological manifestations.Methods: This is a single-center case series, from a tertiary public university health center in Montreal, Canada. Cases of children with possible PEPP were selected prospectively from 2005 to 2017, based on head MRI findings. Medical history, exam fi...

The diagnosis of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial with adult diagnostic features overlapping with normal physiological events that occur during puberty. The aim of international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core ou...

Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2–13 (including XL and Gαs) than with exo...

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

Background: GNAS gene is a complex imprinted locus, resulting in the expression of at least four transcripts (XL, NESP55, A/B and Gsα) characterized by their specific exon 1 and common exons 2-13. While Gαs is biallelically expressed in most tissues, XL is only expressed from the paternal allele. Maternally inherited, loss-of-function mutations affecting those GNAS exons that ...

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

Background: Alterations in endocrine functions and low-grade systemic inflammation represent fundamental characteristics of obesity. These biological systems have been repeatedly linked to fatigue symptoms.Objective and hypotheses: The aim of the study was to assess the relationship between fatigue symptoms and metabolic/inflammatory markers in a sample of non-diabetic obese children.Method: The study was conducted in 41 obese (med...

Background: GH treatment in severe GH deficiency during the transition period is a key matter.Objective and hypotheses: To assess the outcome of 30 severe GH deficient (GHD) patients after a structured transition program, in a French Universitary Hospital between 1988 and 2014.Method: 30 patients treated with GH until final height for congenital deficiency: 16/30 (12 ectopic posterior pituitary), brain tumors: 11/30 (5 Rathke’...

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...